ASPSCR1
Summary: The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:606236 Ensembl IDEnsembl:ENSG00000169696 HGNC IDHGNC:HGNC:13825 PHARMGKB IDPA25058 Map Location17q25.3 | |||||
GO terms in ASPSCR1
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006886 | intracellular protein transport |
| BP | IMP | GO:0031401 | positive regulation of protein modification process |
| BP | IEA | GO:0042593 | glucose homeostasis |
| BP | IEA | GO:0046324 | regulation of glucose import |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IEA | GO:0005829 | cytosol |
Gene expression in normal tissue: ASPSCR1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in ASPSCR1
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| reactome | R-HSA-1445148 | Translocation of SLC2A4 (GLUT4) to the plasma membrane |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in ASPSCR1
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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